Varaico: Literature-Extracted Genetic Variants

ALK

3,554 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass t...

Pfam Domains

MAMaa 480–635UCSCMAM domain, meprin/A5/mu

ALK_LTK_GRDaa 728–989UCSCALK/LTK, Glycine-rich domain

PK_Tyr_Ser-Thraa 1116–1383UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

ALK receptor tyrosine kinase

HGNC Alias Symbols

CD246; ALK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

22 papers

NM_004304.5

p.F1245L

c.3735C>A

Surrounding Variants

22 papers

NM_004304.5

p.F1245L

c.3735C>G

1 paper

NM_004304.5

p.F1245fs

c.3733_3734fs

69 papers

NM_004304.5

p.F1245C

c.3734T>G

4 papers

NM_004304.5

p.F1245Y

c.3734T>A

57 papers

NM_004304.5

p.F1245V

c.3733T>G

22 papers

NM_004304.5

p.F1245L

c.3733T>C

17 papers

NM_004304.5

p.F1245I

c.3733T>A

1 paper

NM_004304.5

p.R1248*

c.3742C>T

3 papers

NM_004304.5

p.R1248Q

c.3743G>A

1 paper

NM_004304.5

p.R1248Splc

c.3743+1G>T

5 papers

NM_004304.5

p.E1242K

c.3724G>A

1 paper

NM_004304.5

p.E1241G

c.3722A>G